2023
Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E
Boddu P, Gupta A, Roy R, De La Pena Avalos B, Herrero A, Zimmer J, Simon M, Chandhok N, King D, Neuenkirchen N, Dray E, Lin H, Kupfer G, Verma A, Neugebauer K, Pillai M. Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E. Blood 2023, 142: 714. DOI: 10.1182/blood-2023-187303.Peer-Reviewed Original ResearchSplicing factorsChIP-seqK562 cell lineKey regulatory genesCell linesSingle mutant alleleNon-denaturing gelsAlternative splicingTranscriptional kineticsRegulatory genesSpliceosome assemblySplicing efficiencyMRNA splicingCRISPR/Progenitor populationsNeomorphic functionsMolecular mechanismsMutant allelesIsoform changesGene editingNovel mechanismMutationsSF mutationsRecurrent mutationsAssembly kinetics
2013
Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation
Minella A, Ramirez O, Xu Y, Murthy T, Yang X, Pillai M. Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation. Blood 2013, 122: 2773. DOI: 10.1182/blood.v122.21.2773.2773.Peer-Reviewed Original ResearchSplicing of RNAErythroid maturationErythroid differentiationRNA splicing factorsMurine progenitor cellsMyelodysplastic syndromeWhole-genome sequencingSpliceosomal proteinsSplicing factorsColony forming assaysMutant SF3B1SF3B1 mutationsHematopoietic maturationCDNA constructsHuman cord bloodComplementary experimental approachesAddition of erythropoietinHematopoietic precursor cellsGenome sequencingMDS patientsMolecular mechanismsPosition 700Accessory receptorsHematopoietic progenitorsNormal hematopoiesis